AFG3L2 - Gene browser

AFG3L2

AFG3 like matrix AAA peptidase subunit 2

HCNC Approved Symbol: AFG3L2 (HGNC:315)
Genomic Coordinates: 18:12,328,944 - 12,377,227 (18p11.21)
Synonyms: SPAX5, SCA28
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the AFG3L2 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

010
Patient count

Optic atrophy: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Seizures: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Gait disturbance: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Muscle spasms: 2 (20.0%)
Patient Count: 2 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (20.0%)
Dysarthria: 1 (10.0%)
Patient Count: 1 (10.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (10.0%)